Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation

• Main Authors: Stefanie Müthel (Author), Andreas Marg (Author), Busem Ignak (Author), Janine Kieshauer (Author), Helena Escobar (Author), Christian Stadelmann (Author), Simone Spuler (Author)
• Format: Book
• Published: Elsevier, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

With thousands of patients worldwide, CAPN3 c.550delA is the most frequent mutation causing severe, progressive, and untreatable limb girdle muscular dystrophy. We aimed to genetically correct this founder mutation in primary human muscle stem cells. We designed editing strategies providing CRISPR-C...